Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs998297769
rs998297769
GABRE
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs984649575
rs984649575
CLIP1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886043613
rs886043613
FGFR3
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886041093
rs886041093
EHMT1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886039900
rs886039900
AHDC1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs879253753
rs879253753
ANKRD11
CUI: C0349588
Disease: Short stature
Short stature 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs875989777
rs875989777
CTSA
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848

2000
dbSNP: rs875989777
rs875989777
CTSA
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
dbSNP: rs875989777
rs875989777
CTSA
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014
dbSNP: rs869312707
rs869312707
MED13L
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312687
rs869312687
RIT1
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs869025191
rs869025191
RIT1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs864309521
rs864309521
CUL7 ; KLC4
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR

dbSNP: rs80338903
rs80338903
USH2A
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs80338796
rs80338796
RAF1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007
dbSNP: rs80338796
rs80338796
RAF1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007
dbSNP: rs797045283
rs797045283
ARID1B
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797044526
rs797044526
DYRK1A ; LOC105372797
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044525
rs797044525
DYRK1A ; LOC105372797
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044524
rs797044524
DYRK1A ; LOC105372797
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044523
rs797044523
DYRK1A ; LOC105372797
CUI: C0349588
Disease: Short stature
Short stature 		TA 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044522
rs797044522
DYRK1A
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044521
rs797044521
DYRK1A ; LOC105372797
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015